Epidermolysis bullosa and congenital skin fragility
Gene: EGFRThe rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 1.53
One individual with inflammatory skin and bowel disease reported.Created: 11 Aug 2020, 1:55 a.m. | Last Modified: 11 Aug 2020, 1:55 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inflammatory skin and bowel disease, neonatal, 2 (MIM#616069)
Publications
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:EGFR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.15
Source Expert Review Red was added to EGFR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Phenotypes for gene: EGFR were changed from to ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Publications for gene: EGFR were set to
gene: EGFR was added gene: EGFR was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal